and Conditions Tested

Conditions & Genes Associated

Metabolic Disorders HSD3B2, HADH, MCCC1, MCCC2, PHGDH, MTTP, SLC39A4, ABCD1, ARG1, ASL, ACAT1, BTD, CPS1, CPT1A, CPT2, SLC25A20, IGSF1, TRHR, GAMT, GATM, FOLR1, CYP27A1, ASS1, SLC25A13, LHX3, PROP1, CYP11B1, CYP17A1, NR0B1, HSD3B7, AKR1D1, MPI, ABCC8, HNF4A, KCNJ11, GLUD1, PAX8, SLC5A5, TG, THRA, TPO, TSHB, TSHR, STAR, CYP11B2, UGT1A1, CTNS, POR, AVPR2, QDPR, GLA, MC2R, FBP1, GALK1, GALE, GALT, G6PD, SLC2A1, ETFA, ETFB, ETFDH, GCDH, GSS, G6PC, GAA, AGL, GYS2, SLC37A4, PYGL, GLB1, ALDOB, HMGCL, HMGCS2, HLCS, CBS, LDLR, ALPL, ACAD8, IVD, GALC, SURF1, LPL, SLC7A7, LIPA, MLYCD, BCKDHA, BCKDHB, DBT, DLD, ACADM, ATP7A, ARSA, MAT1A, LMBRD1, MTR, MTRR, MMAA, MMAB, MMACHC, MMADHC, MUT, MCEE, HADHA, HADHB, GALNS, IDUA, IDS, ARSB, GUSB, NAGS, INS, CASR, AQP2, SMPD1, NPC1, OTC, SLC25A15, PAH, POU1F1, AGXT, HOGA1, GRHPR, PCCA, PCCB, SCNN1A, SCNN1B, PKLR, SPR, ABCG5, SLC22A5, PCBD1, PTS, DUOX2, DUOXA2, IYD, TCN2, TRMU, TH, FAH, TAT, HPD, VDR, CYP27B1, ACADVL, ATP7B

Blood Disorders HBB, MPL, ELANE, HAX1, F9, ENG, ACVRL1, ANK1, EPB42, SLC4A1, SPTB, ADAMTS13

Hearing Loss KCNE1, CDH23, GJB2, GJB6, OTOF, TECTA, TMIE, TMPRSS3, TPRN, TRIOBP, SLC26A4, WHRN, MYO15A,PAX3, SOX10, USH1C, USH1G, USH2A

Cardiac Conditions PTPN11, TAZ, LAMP2, ZIC3, SMAD3, TGFBR1, TGFBR2, FBN1

Immunodeficiency Disorders (SCID) RFX5, RFXANK, RFXAP, CIITA, CYBA, CYBB, NCF2, DOCK8, FOXP3, RAG1, RAG2, CD3D, CD3E, DCLRE1C, IL7R, JAK3, PTPRC, ZAP70, ADA, IL2RG, BTK, CD40LG

Pediatric Cancers BMPR1A, SMAD4, MEN1, NF1, NF2, PTCH1, STK11, RB1, VHL, ERCC2, ERCC5, XPA, XPC

Epilepsy KCNQ2, SCN1A, SCN2A, SCN8A, ETHE1, PRRT2, PNPO, ALDH7A1, TSC1, TSC2

Vision Loss OAT, GPR143, SLC45A2, OPA1

Other Conditions JAG1, COL4A3, COL4A4, COL4A5, TTPA, NTRK1, ANKH, CRLF1, CFTR, GCH1, PRF1, MEFV, WT1, HPS1, HPS4, SLC34A3, COL1A1, COL1A2, TCIRG1, PKHD1, PKD2, SMN1, SMN2

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Blood disorders in newborns can be a result of abnormal development of red blood cells or malformation of blood vessels. This test screens for conditions that can lead to anemia and other blood-related conditions. Early detection can aid in treatment and management measures for these conditions, including surveillance, transfusions, and bone marrow transplant therapy.

Condition

Beta-thalassemia HBB

Congenital amegakaryocytic thrombocytopaenia MPL

Congenital neutropenia ELANE, HAX1

Hemophilia B F9

Hereditary hemorrhagic telangiectasia type 1 ENG

Hereditary hemorrhagic telangiectasia type 2 ACVRL1

Spherocytosis ANK1, EPB42, SLC4A1, SPTB

Thrombotic thrombocytopenic purpura ADAMTS13

CANCER SYNDROMES (PEDIATRIC)

Cancer syndromes are characterized by uncontrolled abnormal cell growth. This test analyzes a number of genes associated with pediatric cancers that can develop in early childhood. By identifying infants who have increased risk for pediatric cancers, medical decisions, surveillance, and steps towards preventive care can be made early on. Management options include increased surveillance and screening.

Condition Gene

Juvenile polyposis syndrome BMPR1A, SMAD4

Multiple endocrine neoplasia I MEN1

Neurofibromatosis type 1 NF1

Neurofibromatosis type 2 NF2

Nevoid basal cell carcinoma syndrome PTCH1

Peutz-Jeghers syndrome STK11

Retinoblastoma RB1

Von Hippel-Lindau syndrome VHL

Xeroderma pigmentosum ERCC2, ERCC5, XPA, XPC

2020 ©Picture Genetics. All Rights Reserved. | www.picturegenetics.com | [email protected] | + 1 626.434.3596 2 EPILEPSY Epilepsy is a neurological disorder that results in disturbances of nerve cell activity in the brain, causing seizures. Early detection and implementation of treatment, management, and/or surveillance can improve overall quality of life for infants diagnosed with these conditions. Management options include routine monitoring and anti- epileptic medication.

Condition Gene

Benign familial neonatal seizures KCNQ2

Dravet syndrome SNC1A

Early infantile epileptic encephalopathy; Benign familial infantile seizures SCN2A, SCN8A

Ethylmalonic encephalopathy ETHE1

Familial infantile convulsions with paroxysmal choreoathetosis PRRT2

Pyridoxal 5'-phosphate-dependent epilepsy PNPO

Pyridoxine-dependent epilepsy ALDH7A1

Tuberous sclerosis TSC1, TSC2

HEARING LOSS Hearing loss can impact a child’s speech and language development. This test analyzes the genes related to early-onset hearing loss. Early identification and intervention can improve a child’s learning, development, and quality of life. Management options include the use of hearing aids and other devices, and speech language therapies.

Condition Gene

Jervell and Lange-Nielsen syndrome KCNE1

Nonsyndromic hearing loss CDH23, GJB2, GJB6, OTOF, TECTA, TMIE, TMPRSS3, TPRN, TRIOBP

Pendred syndrome SLC26A4

Sensorineural hearing loss MYO15A

Shah- SOX10

Usher syndrome 1G USH1G

Usher syndrome type 1C USH1C

Usher syndrome type 2A USH2A

Usher syndrome IID WHRN

Waardenburg syndrome PAX3

VISION LOSS Vision loss in young children and infants can have an adverse effect on a child’s growth and development. Early detection can aid in treatment and management measures for these conditions. Management options include dietary management, vision aids, and reduced sun exposure.

Condition Gene

Gyrate atrophy of the choroid and retina OAT

Ocular albinism type I GPR143

Oculocutaneous albinism type IV SLC45A2

Optic atrophy 1 OPA1

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Metabolic conditions are often related to abnormal chemical reactions that occur in the body. Early detection can aid in treatment and management measures for these conditions. Management options include dietary modifications, hormone and replacement therapy, surgery, and surveillance.

Condition Gene

3-beta-hydroxysteroid dehydrogenase deficiency HSD3B2

3-hydroxyacyl-CoA dehydrogenase deficiency; Congenital hyperinsulinism HADH

3-Methylcrotonyl-CoA carboxylase 1 deficiency MCCC1

3-Methylcrotonyl-CoA carboxylase 2 deficiency MCCC2

3-phosphoglycerate dehydrogenase deficiency PHGDH

Abetalipoproteinemia MTTP

Acrodermatitis enteropathica SLC39A4

Adrenoleukodystrophy ABCD1

Arginase deficiency ARG1

Argininosuccinic aciduria ASL

Beta-ketothiolase deficiency (Alpha-methylacetoacetic aciduria) ACAT1

Biotinidase deficiency BTD

Carbamoylphosphate synthetase I deficiency CPS1

Carnitine palmitoyltransferase I deficiency CPT1A

Carnitine palmitoyltransferase II deficiency CPT2

Carnitine-acylcarnitine translocase deficiency SLC25A20

Central and testicular enlargement IGSF1

Central hypothyroidism with thyrotropin-releasing hormone resistance TRHR

Cerebral creatine deficiency syndrome GAMT, GATM

Cerebral transport deficiency FOLR1

Cerebrotendinous xanthomatosis CYP27A1

Citrullinemia ASS1, SLC25A13

Combined pituitary hormone deficiency LHX3, PROP1

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency CYP11B1

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency CYP11A1

Congenital adrenal hypoplasia NR0B1

Congenital bile acid synthesis defect type 1 HSD3B7

Congenital bile acid synthesis defect type 2 AKR1D1

Congenital disorder of glycosylation 1b MPI

Congenital hyperinsulinism ABCC8, HNF4A, KCNJ11

Congenital hyperinsulinism with hyperammonemia GLUD1

Congenital hypothyroidism PAX8, SLC5A5, TG, THRA, TPO, TSHB, TSHR

Congenital lipoid adrenal hyperplasia STAR

Corticosterone methyloxidase deficiency CYP11B2

Crigler-Najjar syndrome UGT1A1

Cystinosis CTNS

Cytochrome P450 oxidoreductase deficiency POR

Diabetes insipidus, nephrogenic AVPR2

Dihydropteridine reductase deficiency QDPR

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